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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAPGEF1 Gene

protein-coding   GIFtS: 61
GCID: GC09M134452

Rap guanine nucleotide exchange factor (GEF) 1

(Previous name: guanine nucleotide-releasing factor 2 (specific for crk...)
(Previous symbol: GRF2)
 Explore 18 diseases affiliated with
RAPGEF1 via our new
 Human Malady Compendium 
Biological research products
for RAPGEF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Rap Guanine Nucleotide Exchange Factor (GEF) 11 2     CRK SH3-Binding GNRP2 3
GRF21 2 3 5     Rap Guanine Nucleotide Exchange Factor 12
C3G1 2 5     Guanine Nucleotide-Releasing Factor 23
Guanine Nucleotide-Releasing Factor 2 (Specific For Crk Proto-Oncogene)1 2     Protein C3G3

External Ids:    HGNC: 45681   Entrez Gene: 28892   Ensembl: ENSG000001072637   OMIM: 6003035   UniProtKB: Q139053   

Export aliases for RAPGEF1 gene to outside databases

Previous GC identifers: GC09M129729 GC09M131481 GC09M133441 GC09M103946


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAPGEF1:
This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain
of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in
apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript
variants of this gene have been described, but the full-length nature of some variants has not been determined.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905
Function: Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from
CRK to activate RAS

Gene Wiki entry for RAPGEF1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_035014.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAPGEF1 gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RAPGEF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPGEF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34.3

RAPGEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M134452:  view genomic region     (about GC identifiers)

Start:
134,452,157 bp from pter      End:
134,615,461 bp from pter
Size:
163,305 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905 (See protein sequence)
Recommended Name: Rap guanine nucleotide exchange factor 1  
Size: 1077 amino acids; 120548 Da
Subunit: Interacts with CRK via its SH3-binding sites
Secondary accessions: Q5JUE4 Q8IV73
Alternative splicing: 3 isoforms:  Q13905-1   Q13905-2   Q13905-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAPGEF1: NX_Q13905

Post-translational modifications:

  • Phosphorylation at Tyr-504 enhances activity as Rap guanine nucleotide exchange factor1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13905

  • RAPGEF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_005303.2  NP_941372.1  

    ENSEMBL proteins: 
     ENSP00000266110   ENSP00000361269   ENSP00000405967   ENSP00000407210   ENSP00000394296  
     ENSP00000410640   ENSP00000402174   ENSP00000350315   ENSP00000361263   ENSP00000361264  
    Reactome Protein details: Q13905
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    Uscn Proteins for RAPGEF1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005768endosome TAS--
    GO:0005829cytosol TAS--


    RAPGEF1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RAPGEF1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR008937 Ras_GEF
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25
     IPR019804 Ras_G-nucl-exch_fac_CS
     IPR000651 Ras-like_Gua-exchang_fac_N

    Graphical View of Domain Structure for InterPro Entry Q13905

    ProtoNet protein and cluster: Q13905

    1 Blocks protein family: IPB001895 Guanine-nucleotide dissociation stimulator CDC25

    UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 Ras-GEF domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905
    Function: Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from
    CRK to activate RAS

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    SwitchGear 3'UTR luciferase reporter plasmidRAPGEF1 3' UTR sequence
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI19380743
    GO:0017124SH3 domain binding IEA--


    RAPGEF1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for RAPGEF1:
     Decreased focal adhesion (FA)   Decreased p24 protein expressi  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Rapgef1tm1Mats for RAPGEF1
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rapgef1):
     cardiovascular system  cellular  embryogenesis  homeostasis/metabolism  mortality/aging 
     muscle  nervous system 

    RAPGEF1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/35 super-pathways (see all 35About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development HGF signaling pathway
    Development HGF signaling pathway1.00
    Signaling of Hepatocyte Growth Factor Receptor0.35
    Development_HGF signaling pathway0.78
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)0.23
    Development_Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.20
    Development Neurotrophin family signaling0.45
    2G-protein signaling Rap1A regulation pathway
    G-protein signaling Rap1A regulation pathway1.00
    G-protein signaling_Rap1B regulation pathway0.21
    G-protein signaling_Rap1A regulation pathway0.88
    G-protein signaling Rap1B regulation pathway0.21
    3Focal Adhesion
    Focal Adhesion1.00
    Integrin-mediated cell adhesion0.38
    Focal adhesion0.66
    HGF Pathway0.24
    4Signaling by FGFR
    Downstream signal transduction0.84
    NGF signalling via TRKA from the plasma membrane0.70
    Signaling by PDGF0.72
    Signalling by NGF0.52
    5Immune response_IFN gamma signaling pathway
    Immune response_IFN gamma signaling pathway1.00
    IFN-gamma pathway0.43
    Immune response IFN gamma signaling pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/9 EMD Millipore Pathways for RAPGEF1 (see all 9)
        Development HGF signaling pathway
    Cytoskeleton remodeling FAK signaling
    G-protein signaling TC21 regulation pathway
    Immune response IFN gamma signaling pathway
    G-protein signaling Rap1B regulation pathway

    1 R&D Systems Pathway for RAPGEF1
        Adipocytokines & Insulin Signaling

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RAPGEF1 (see all 6)
        HGF Pathway
    IGF1R Signaling
    Paxillin Interactions
    Molecular Mechanisms of Cancer
    Rap1 Pathway

    5/9 GeneGo (Thomson Reuters) Pathways for RAPGEF1 (see all 9)
        G-protein signaling TC21 regulation pathway
    G-protein signaling Rap1A regulation pathway
    Development EPO-induced MAPK pathway
    Development Neurotrophin family signaling
    Development HGF signaling pathway

    5/17 BioSystems Pathways for RAPGEF1 (see all 17
        Integrin-mediated cell adhesion
    Focal Adhesion
    Insulin Signaling
    B Cell Receptor Signaling Pathway
    IL-3 Signaling Pathway

    5/13        Reactome Pathways for RAPGEF1 (see all 13)
        Frs2-mediated activation
    Cytokine Signaling in Immune system
    Regulation of signaling by CBL
    NGF signalling via TRKA from the plasma membrane
    Downstream signal transduction


    4         Kegg Pathways  (Kegg details for RAPGEF1):
        Focal adhesion
    Neurotrophin signaling pathway
    Insulin signaling pathway
    Renal cell carcinoma


    RAPGEF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAPGEF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for RAPGEF1 (Q139051, 2, 3 ENSP000003612644) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461081, 2, 3, ENSP000003005744EBI-976876,EBI-886 MINT-15982 I2D: score=7 STRING: ENSP00000300574
    PIK3R1P279861, 2, 3, ENSP000002743354EBI-976876,EBI-79464 MINT-8112195 I2D: score=3 STRING: ENSP00000274335
    ABL1P005192, 3, ENSP000003614234MINT-8110719 MINT-7213240 MINT-7213283 MINT-7213267 I2D: score=3 STRING: ENSP00000361423
    CRKLP461092, 3, ENSP000003463004MINT-7213231 MINT-7213262 I2D: score=4 STRING: ENSP00000346300
    FYNP062411, 3, ENSP000003576564EBI-976876,EBI-2561531 I2D: score=2 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000186activation of MAPKK activity TAS--
    GO:0001568blood vessel development IEA--
    GO:0007165signal transduction NAS7512734
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS7512734
    GO:0007264small GTPase mediated signal transduction IEA--


    RAPGEF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RAPGEF1
    Search CenterWatch for drugs/clinical trials and news about RAPGEF1 / RPGF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAPGEF1 gene (2 alternative transcripts): 
    NM_005312.2  NM_198679.1  

    Unigene Cluster for RAPGEF1:

    Rap guanine nucleotide exchange factor (GEF) 1
    Hs.127897  [show with all ESTs]
    Unigene Representative Sequence: NM_198679
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266110 ENST00000372195 ENST00000429421(uc010mzl.1 uc010mzo.1 uc010mzp.1 uc010mzm.3)
    ENST00000414781 ENST00000419442(uc010mzr.1 uc010mzq.1 uc010mzs.1)
    ENST00000481260 ENST00000438647 ENST00000427994 ENST00000357686(uc022bou.1 uc022bov.1)
    ENST00000372189(uc022bot.1) ENST00000372190(uc022bos.1)

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    Additional cDNA sequence: 

    AJ420417.1 AK302763.1 BC041710.1 CR749354.1 D21239.1 DQ925677.1 DQ925678.1 DQ925679.1 
    DQ925680.1 DQ925681.1 DQ925682.1 DQ925683.1 DQ925684.1 

    21 DOTS entries:

    DT.92431967  DT.316981  DT.100779638  DT.40122665  DT.100779639  DT.75183099  DT.86851760  DT.92431968 
    DT.40315725  DT.95347072  DT.100738450  DT.100776031  DT.121160998  DT.92060025  DT.92431972  DT.95270527 
    DT.97781075  DT.101954250  DT.407004  DT.426595  DT.92004610 

    24/320 AceView cDNA sequences (see all 320):

    BE396488 BM917164 BG983342 BQ054243 BM914033 BQ221036 BM704309 BX097548 
    BM701260 AA300930 BX328263 BG236282 BM917860 W57969 BQ070501 BE018171 
    AW504921 BG696331 BQ708232 BU431048 BM725619 AW500020 T11437 CR749354 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a ·
    SP1:        -     -     -           -                                                                       -                                         -     -   
    SP2:              -     -           -                                                                       -                                         -     -   
    SP3:                                                                                                                                      -           -     -   
    SP4:                                -     -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 20b ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
    SP1:        -                                                                     
    SP2:        -                                                                     
    SP3:        -                                                                     
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for RAPGEF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAPGEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RAPGEF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAPGEF1

    SOURCE GeneReport for Unigene cluster: Hs.127897

    UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905
    Tissue specificity: Ubiquitously expressed in adult and fetus. Expression is high in adult skeletal muscle and placenta
    and in fetal brain and heart. Low levels of expression in adult and fetal liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including RAPGEF1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RAPGEF1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAPGEF11 Rap guanine nucleotide exchange factor (GEF) 1 80.2(n)
    87.56(a)
      417173  XM_415456.3  XP_415456.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAPGEF16
    --
    63(a)
    1 ↔ 1
    GL344551.1(4342-15944)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ039810.12   -- 82.34(n)    BJ039810.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563722 similar to guanine nucleotide-releasing factor 2 (specific more 75.24(n)   394101  BC049305.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta C3G1 C3G 50.23(n)
    42.02(a)
      31618  NM_001144694.2  NP_001138166.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y34B4A.46
    Protein Y34B4A.4, isoform b
    28(a)
    1 ↔ 1
    X(5264298-5271774)


    ENSEMBL Gene Tree for RAPGEF1 (if available)
    TreeFam Gene Tree for RAPGEF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAPGEF1 gene
    RALGPS22  RASGRF12  RGL22  SOS22  RASGRF22  SOS12  RGL32  RALGDS2  
    RALGPS12  RGL12  RGL42  
    2 SIMAP similar genes for RAPGEF1 using alignment to 14 protein entries:     RPGF1_HUMAN (see all proteins):
    DKFZp781P1719    DKFZp781H1715

    RAPGEF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2631 NCBI SNPs in RAPGEF1 are shown (see all 2631    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs123391671,2
    H,--134451764(+) CACACC/TGCAAA 2 -- ds50015Minor allele frequency- T:0.01NS EA WA 528
    rs1179809001,2
    --134451796(+) CTTCCG/AGGCCC 2 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1422947801,2
    --134451802(+) GGCCCC/TGAAGG 2 -- ds50010--------
    rs70304011,2
    C,F,A,H,--134451843(+) CACCCG/AAGGAA 2 -- ds500125Minor allele frequency- A:0.22NS EA NA WA CSA 2700
    rs112434381,2
    C,F,A,H,--134451883(+) GGGCTC/GTTGTG 2 -- ds500113Minor allele frequency- G:0.19NS EA NA CSA WA 792
    rs1873697901,2
    --134451911(+) AGCACA/GAGCAA 2 -- ds50010--------
    rs1140210801,2
    F,--134452149(+) CTGGGC/TGCGGA 2 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1147496001,2
    F,--134452150(+) TGGGCG/ACGGAC 2 -- ds50011Minor allele frequency- A:0.06WA 118
    rs1932243571,2
    --134452154(+) CGCGGA/TCATGG 2 -- ds50010--------
    rs68791,2
    C,F,--134452370(-) GGTGTG/AGGGGG 2 -- ut313Minor allele frequency- A:0.50NA WA 6

    HapMap Linkage Disequilibrium report for RAPGEF1 (134452157 - 134615461 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RAPGEF1
         1 CNV: 2839

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RAPGEF1 for disorders           About GeneDecksing

    OMIM gene information: 600303    OMIM disorders: --

    18 diseases for RAPGEF1:    About MalaCards
    cervical squamous cell carcinoma    squamous cell carcinoma    papillary thyroid carcinoma    blastoma
    renal cell carcinoma    cblc    bipolar disorder    thyroid carcinoma
    carcinoma    thyroiditis    cervicitis    breast carcinoma
    lung cancer    cholesterol    neuroblastoma    melanoma
    leukemia    acute promyelocytic leukemia

    Human Genome Epidemiology (HuGE) Navigator: RAPGEF1 (8 documents)

    Export disorders for RAPGEF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAPGEF1 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with RAPGEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins. (PubMed id 7512734)1, 2, 3 Tanaka S....Matsuda M. (1994)
    2. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    3. Physical and functional interaction between Hck tyrosine kinase and guanine nucleotide exchange factor C3G results in apoptosis, which is independent of C3G catalytic domain. (PubMed id 14551197)1, 2 Shivakrupa R....Swarup G. (2003)
    4. Interaction between the amino-terminal SH3 domain of CRK and its natural target proteins. (PubMed id 8662907)1, 2 Matsuda M.... Kurata T. (1996)
    5. Mapping of the human C3G gene coding a guanine nucleotide releasing protein for Ras family to 9q34.3 by fluorescence in situ hybridization. (PubMed id 7959692)1, 3 Takai S....Matsuda M. (1994)
    6. Four proline-rich sequences of the guanine-nucleotide exchange factor C3G bind with unique specificity to the first Src homology 3 domain of Crk. (PubMed id 7806500)1, 2 Knudsen B.... Hanafusa H. (1994)
    7. RAPGEF1 gene variants associated with type 2 diabetes in the Korean population. (PubMed id 19297053)1, 9 Hong K.W....Oh B. (2009)
    8. Expression of the Rap1 guanine nucleotide exchange fa ctor, MR-GEF, is altered in individuals with bipolar disorder. (PubMed id 20436929)1, 9 Bithell A....Williams B.P. (2010)
    9. Phosphorylated guanine nucleotide exchange factor C3G, induced by pervanadate and Src family kinases localizes to the Golgi and subcortical actin cytoskeleton. (PubMed id 15320955)1, 9 Radha V....Swarup G. (2004)
    10. C3G transgenic mouse models with specific expression i n platelets reveal a new role for C3G in platelet clotting through its GEF activ ity. (PubMed id 22659131)1 Gutierrez-Herrero S....Guerrero C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2889 HGNC: 4568 AceView: RAPGEF1 Ensembl:ENSG00000107263 euGenes: HUgn2889
    ECgene: RAPGEF1 Kegg: 2889 H-InvDB: RAPGEF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAPGEF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAPGEF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAPGEF1 gene:
    Search GeneIP for patents involving RAPGEF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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